ClinVar

NM_014000.3(VCL):c.1907A>G (p.His636Arg)

Gene:

VCL:vinculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.2

Genomic location:

• Chr10: 74100982 (on Assembly GRCh38)
• Chr10: 75860740 (on Assembly GRCh37)

Preferred name:

NM_014000.3(VCL):c.1907A>G (p.His636Arg)

Other names:

p.H636R:CAT>CGT

HGVS:

• NC_000010.11:g.74100982A>G
• NG_008868.1:g.107869A>G
• NM_003373.4:c.1907A>G
• NM_014000.3:c.1907A>GMANE SELECT
• NP_003364.1:p.His636Arg
• NP_054706.1:p.His636Arg
• NP_054706.1:p.His636Arg
• LRG_383t1:c.1907A>G
• LRG_383:g.107869A>G
• LRG_383p1:p.His636Arg
• NC_000010.10:g.75860740A>G
• NM_014000.2:c.1907A>G
• c.1907A>G

This HGVS expression did not pass validation

Protein change:

H636R

Links:

dbSNP: rs71579374

NCBI 1000 Genomes Browser:

rs71579374

Molecular consequence:

• NM_003373.4:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_014000.3:c.1907A>G - missense variant - [Sequence Ontology: SO:0001583]